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Neurofibromatosis, type 1(NF1)

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Synonyms: NEUROFIBROMATOSIS, PERIPHERAL TYPE; NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, TYPE I, SOMATIC; Neurofibromatosis-Noonan syndrome; NF1; Recklinghausen's disease; Von Recklinghausen disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: [M]Von Recklinghausen's disease (81669005); Neurofibromatosis type 1 (92824003); Neurofibromatosis, type 1 (92824003); Clinical von Reclinghausen's disease (92824003); Neurofibromatosis 1 (700061007); NF1 (700061007); Neurofibromatosis (nonmalignant) type (700061007); Neurofibromatosis, peripheral type (700061007); Von Recklinghausen disease (700061007); Neurofibromatosis 1 (92824003); Neurofibromatosis, peripheral type (92824003); NF1 (92824003); Von Recklinghausen disease (92824003)
 
Gene (location): NF1 (17q11.2)
OMIM®: 162200
Orphanet: ORPHA636

Disease characteristics

Excerpted from the GeneReview: Neurofibromatosis 1
Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GeneReviews]
Authors:
JM Friedman   view full author information

Additional descriptions

From OMIM
Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009). Type II neurofibromatosis (NF2; 101000) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2; 607379) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993). Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; 120436 and MSH2; 609309) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (276300), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1. See also Legius syndrome (611431), a genetically distinct disorder with a similar phenotype to NF1.  http://www.omim.org/entry/162200
From GHR
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.Additional signs and symptoms of neurofibromatosis type 1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention deficit hyperactivity disorder (ADHD) occur frequently in affected individuals.  https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1

Clinical features

Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Renal artery stenosis
MedGen UID:
19727
Concept ID:
C0035067
Disease or Syndrome
The presence of stenosis of the renal artery.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Parathyroid adenoma
MedGen UID:
75502
Concept ID:
C0262587
Neoplastic Process
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Overgrowth
MedGen UID:
338768
Concept ID:
C1851731
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Rhabdomyosarcoma
MedGen UID:
20561
Concept ID:
C0035412
Neoplastic Process
A malignant mesenchymal neoplasm arising from skeletal muscle.
Tibial pseudoarthrosis
MedGen UID:
869786
Concept ID:
C4024216
Anatomical Abnormality
Pseudarthrosis, or \
Overgrowth
MedGen UID:
338768
Concept ID:
C1851731
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.

Professional guidelines

PubMed

Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr; Endocrine Society.
J Clin Endocrinol Metab 2014 Jun;99(6):1915-42. doi: 10.1210/jc.2014-1498. PMID: 24893135
Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K; North American Neuroendocrine Tumor Society (NANETS).
Pancreas 2010 Aug;39(6):775-83. doi: 10.1097/MPA.0b013e3181ebb4f0. PMID: 20664475Free PMC Article
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Toriello HV, Meck JM; Professional Practice and Guidelines Committee.
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Am J Hum Genet 1995 Nov;57(5):1233-41. PMID: 7485175Free PMC Article

Recent clinical studies

Etiology

Ogle SK, Rose MM, Wildes CT
J Pediatr Oncol Nurs 2002 Jul-Aug;19(4):122-6. doi: 10.1177/104345420201900403. PMID: 12203191

Diagnosis

Kantaputra PN, van den Ouweland A, Sangruchi T, Limwongse C
Am J Med Genet A 2012 Jul;158A(7):1750-3. Epub 2012 Jun 7 doi: 10.1002/ajmg.a.35422. PMID: 22678692
Goldgar C
JAAPA 2011 Mar;24(3):75-6, 78. PMID: 21434506
Moore BD
Dev Disabil Res Rev 2009;15(1):45-51. doi: 10.1002/ddrr.53. PMID: 19213018
Ogle SK, Rose MM, Wildes CT
J Pediatr Oncol Nurs 2002 Jul-Aug;19(4):122-6. doi: 10.1177/104345420201900403. PMID: 12203191
Kayl AE, Moore BD 3rd
Ment Retard Dev Disabil Res Rev 2000;6(2):117-24. doi: 10.1002/1098-2779(2000)6:2<117::AID-MRDD5>3.0.CO;2-X. PMID: 10899804

Therapy

Ogle SK, Rose MM, Wildes CT
J Pediatr Oncol Nurs 2002 Jul-Aug;19(4):122-6. doi: 10.1177/104345420201900403. PMID: 12203191

Prognosis

Kantaputra PN, van den Ouweland A, Sangruchi T, Limwongse C
Am J Med Genet A 2012 Jul;158A(7):1750-3. Epub 2012 Jun 7 doi: 10.1002/ajmg.a.35422. PMID: 22678692
Ogle SK, Rose MM, Wildes CT
J Pediatr Oncol Nurs 2002 Jul-Aug;19(4):122-6. doi: 10.1177/104345420201900403. PMID: 12203191

Clinical prediction guides

Kantaputra PN, van den Ouweland A, Sangruchi T, Limwongse C
Am J Med Genet A 2012 Jul;158A(7):1750-3. Epub 2012 Jun 7 doi: 10.1002/ajmg.a.35422. PMID: 22678692
Shannon KM, Watterson J, Johnson P, O'Connell P, Lange B, Shah N, Steinherz P, Kan YW, Priest JR
Blood 1992 Mar 1;79(5):1311-8. PMID: 1536955

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